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Assessment the carrier frequency of monogenic diseases in populations requiring assisted reproductive technology.

PURPOSE: The objective of this study is to assess the carrier frequency and pathogenic variation of monogenetic diseases in a population of 114 subjects in Han Chinese from Hebei province who are undergoing assisted reproductive technology through the utilization of Expanded Carrier Screening (ECS). METHODS: The study utilized a panel consisting of 155 severe monogenic recessive genetic diseases for ECS. Next-generation sequencing technology was employed to identify specific variants associated with ECS in a cohort of 114 subjects from 97 couples, comprising 97 females and 17 male spouses. RESULTS: A total of 114 individuals received ECS. The carrier rate of pathogenic genes in the enrolled population was 44.74% (51/114). Among the 97 females, the carrier rate of pathogenic genes was higher in those without assisted reproduction indicators than in those with assisted reproduction indicators (59.09% vs. 41.33%). However, the carrier rate of pathogenic genes in males without assisted reproductive technology was slightly lower than that with assisted reproductive technology (40% vs. 41.67%). Among both female and male participants, the carrier rate of pathogenic genes between individuals without indicators of assisted reproduction and those with such indicators was 55.55% vs. 41.38%. In 51 carriers, 72.55% (37/51) carried one genetic variant, 25.49% (13/51) carried two genetic variants, and 1.96% (1/51) carried three genetic variants. A total of 38 pathogenic genes were detected in this study, and GJB2 and MMACHC were most common. The carrier rates of the two genes were both 5.26% (6/114). A total of 55 variations were detected, and c.235delC was most frequently found. The carrier rate was 3.51% (4/114). The incidence of couples carrying the same pathogenic genes was 1.03% (1/97). CONCLUSIONS: The findings elucidate the carrier rate of pathogenic genes among 155 severe monogenic recessive genetic diseases and underscore the significance of ECS as a preventive measure against congenital anomalies. When both partners carry the same genetic mutation for a monogenic disease, preventive strategies can be taken in offspring through preimplantation genetic testing (PGT), prenatal genetic testing, or the utilization of donor gametes. ECS is instrumental in assessing reproductive risk, guiding fertility-related decisions, and reducing the prevalence of monogenic recessive genetic disorders in subsequent generations.

Humans↗

Reproductive technologies for prenatal diagnosis.

Reproductive genetic technology provides unprecedented opportunities for pregnant women and their families to obtain direct information about the genetic makeup of their developing fetus. Ultrasonography, maternal serum markers, amniocentesis, chorionic villus sampling and percutaneous umbilical blood sampling already offer opportunities for prenatal diagnosis in early pregnancy. New techniques, such as preimplantation, prenatal diagnosis and fetal cell sorting offer opportunities for prenatal diagnosis in even earlier stages of pregnancy.

Amniocentesis↗

The passage of Florida's Statute on Assisted Reproductive Technology.

Until 1993, there were no statutes in the United States covering gestational surrogacy contracts, disposition of stored embryos and gametes, parentage of children born from donated gametes and embryos, and the inheritance rights of cryopreserved embryos of deceased donors. In March 1993, the Florida Assisted Reproductive Technology Act was passed to address some of these issues and to minimize the expense and emotional cost of related courtroom proceedings. Authors of the bill believed that motherhood of a newborn in the eyes of the law should be determined by two factors: genetic inheritance and the original intent of the woman to become the parent of record. The bill included the assumption that, in the cases of children born of gestational surrogacy, the commissioning genetic parents would be the "natural parents" of the child. Some of the reasons for legislative success of the statute include: 1) clear need for statutory guidance in cases involving reproductive technology, 2) relevance of the issue to cost containment (ie, judicial costs) in an era of health care reform, 3) careful use of scientific terminology and the support of the medical community, 4) involvement of a skilled legislative team, 5) participation of physician specialists in the development of the bill (ie, practicing gynecologists in assisted reproductive technology programs), 6) participation of the State of Florida legislative staff, and 7) consultation with appropriate lobbying groups (eg, Florida Catholic Conference). The successful legislative process that was followed to achieve passage of this bill can serve as an example for other states to emulate.

Female↗

Health inequality and users' risk-taking: a longitudinal analysis in a French reproductive technology centre.

This article sets out to provide a demographic analysis of the production of social inequality through IVF trajectories in a reproductive technology centre of a French hospital. However specific this example may be, it reveals one of the paradoxes of social inequalities in health: lay experience of risk in reproductive technology shows profound inequalities related to social status, despite the fact that equality would seem to be guaranteed in France, since the social security system covers the full cost of the treatments. We will try to understand this paradox through a lifecourse approach. Thus, it will be shown that social inequality in reproductive health is deeply rooted in social scenarios of infertility that lead to differentiated medical experience: there is little benefit and even a worsening in the situation of lower class women, who were faced with unpredictable risks related to the collective testing of these new technologies. Conversely, the possibility of inventing new lifestories, which may or may not include motherhood, was given to upper class women who take calculated risks to delay the scheduling of their pregnancies. In short, this study confirms that the production of social inequality in reproductive health can only be understood in connection with the social dynamics of lifestyles, resulting in specific medical patterns. This paper also leads to the assumption that these social scenarios are related to attempts to enhance the different forms of capital: economic, cultural and social capital. In addition, the presence of risks aggravates this inequality process. This raises another question: do reproductive technologies result in reinforcing social inequality?

Adult↗

Which reproductive technologies are most relevant to studying, managing and conserving wildlife?

The advent of in vitro fertilisation (IVF) and embryo transfer in the 1970s led to speculation about the potential value of these and other 'reproductive technologies' to conserving endangered species. So far, and for the most part, assisted breeding techniques that are routine in domesticated species are not easily adapted to wildlife. Species differences in reproductive form (anatomy/morphology) and function (mechanisms regulating reproductive success) limit the practical applicability for offspring production. Thus, the limiting factor is the lack of basic knowledge about thousands of unstudied species, the foundation that is essential to allowing reproduction to be enhanced and/or controlled. There now is excellent evidence that reproductive technologies are most useful as tools for studying how different species reproduce, especially defining novel and unique mechanisms. The present paper reviews the status and relevance of various reproductive technologies that are useful or have potential for wildlife. Modern examples of progress are provided indicating how these tools are being used to understand ways that wildlife species reproduce and, in some cases, how such knowledge has been used for successful assisted breeding, improved management and conservation.

Animals↗

Attitudes on access to services at assisted reproductive technology clinics: comparisons with clinic policy.

OBJECTIVE: To determine the opinions of assisted reproductive technology (ART) clinic directors on access-to-services issues and to compare these opinions with policy at ART clinics. DESIGN: Survey sent to ART clinic directors. SETTING: Academic medical center, university-based ethics institute. PATIENT(S): None. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Assisted reproductive technology directors' opinions about access to services are related to specific clinic policies. Access issues examined include patient attributes (marital status, age, sexual preference), patient behaviors (substance abuse, psychiatric history, child abuse), number of cycles, and types of procedures offered (surrogacy, cloning, ova cryopreservation, ART for HIV-positive individuals). RESULT(S): Provider opinion was more restrictive than clinic policy in 19 of 20 categories measured. The largest difference between opinion and policy was seen on the question of setting restrictions as to age of the male partner. About 20% of directors think that surrogacy for convenience should be allowed: about 10% of directors think cloning of human beings should be offered. CONCLUSION(S): The opinions of ART directors on access to services are more conservative than clinic policies. Contributing factors may include respect for patient autonomy; fear of litigation; policy that reflects a continuum of beliefs among providers; and economic pressure to offer a broad range of procedures.

Attitude of Health Personnel↗

General anesthesia versus monitored anesthesia care with remifentanil for assisted reproductive technologies: effect on pregnancy rate.

STUDY OBJECTIVES: To compare the outcome of assisted reproductive technology procedures in women who undergo monitored anesthesia care (MAC) with remifentanil versus general anesthesia. DESIGN: Retrospective data analysis. SETTING: University hospital. PATIENTS: 251 ASA physical status I and II women participating in an in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) program. INTERVENTIONS: During the first phase of the study, all patients underwent general anesthesia induction with alfentanil, propofol, and nitrous oxide, which was maintained with isoflurane or propofol infusion. In the second phase of the study, all patients received a standardized MAC technique with a remifentanil infusion; local anesthetics were not used. MEASUREMENTS: The primary endpoint was pregnancy rate per transfer. The number of oocytes collected, fertilized, and cleaved was recorded, as was the number of oocytes transferred. MAIN RESULTS: Patients who underwent MAC had a greater pregnancy rate with IVF (28.2 vs. 16.3%), with ICSI (32.2% vs. 18.8%), and overall (30.6% vs. 17.9%). CONCLUSIONS: Pregnancy rates in women undergoing transvaginal oocyte retrieval for assisted reproductive technologies were significantly higher with a remifentanil-based MAC technique than with a general anesthetic technique.

Adult↗

Medical and psychological aspects of infertility and assisted reproductive technology for the primary care provider.

Couples attempting to conceive are requiring more assisted reproductive technology. Infertility may be associated with delayed onset of marriage and childbearing, smoking and alcohol excess, physiological factors such as endometriosis and varicocele, or a cause that is not identified. The psychological needs of couples, however, are often overlooked. Primary care providers can serve as the initial information source and guide for the couple struggling with infertility. In a managed care environment, a primary care provider can provide a considerable amount of education, referral for stress management and counseling, and a small portion of the medical evaluation before referring to a reproductive specialist. This overview is intended to help primary care providers and couples achieve an educated and less stressful assisted reproductive technology experience. It is not meant to circumvent the need for immediate referral to a reproductive specialist for evaluation and treatment of this very complex intervention.

Female↗

History of regulation of assisted reproductive technology (ART) in the USA: a work in progress.

The advent of human assisted reproductive technology (ART) has engendered much legal and ethical debate. This article examines the evolution of regulation in ART in the USA and discusses the impetus for, and repercussions of, the Human Fertilisation and Embryology Authority in the UK. Key differences in government legislation between the UK and USA have driven the evolution of a distinct regulatory body that oversees ART in the USA. The National Advisory Board on Ethics in Reproduction (NABER) serves as an unofficial advisory body that addresses ethical issues in reproduction. The Society for Assisted Reproductive Technology (SART) maintains a registry that collects, reports and verifies data for individual ART clinics. Clinic-specific success rates are readily available through annual reports published through a collaboration of SART, the American Society of Reproductive Medicine (ASRM), the Center for Disease Control (CDC), and the National Infertility Association (RESOLVE). The ASRM has assumed a strong advisory role in addressing ethical issues and practice guidelines in assisted reproduction. Thus, although there is no central body to regulate ART in the USA, basic legislation, standards and guidelines that drive the provision of these services do exist in the USA.

Female↗

The prospect for international regulatory interventions in embryo transfer and reproductive technologies in the next century.

Historically, international regulatory interventions in the area of animal reproductive technologies have focused on the need for mitigation against the dissemination of diseases with the movement of genetics and germplasm across international borders. The continued globalization of agriculture under the Sanitary/Phytosanitary (SPS) Agreement of the World Trade Organization (WTO) ensures that disease considerations arising from third and fourth generation reproductive technologies such as in vitro fertilized embryos, transgenics and xenotransplantation will continue to give rise to animal health regulatory measures. Furthermore, in the aftermath of the raising of the public consciousness and the ensuing consumer confidence crisis concerning animal husbandry and livestock production practices following the Bovine Spongiform Encephalopathy outbreak, evolving societal values are expected to expand regulatory considerations to address veterinary public health and ethical concerns. Consequently, it is expected that the role of the International Embryo Transfer Society in fostering meaningful dialogue and profiling of the research necessary to provide for appropriate science based regulation development will increase in importance.

Animal Husbandry↗

Ethical considerations of the new reproductive technologies. By the Ethics Committee (1986-87) of The American Fertility Society in light of Instruction on the Respect for Human Life in its Origin and on the Dignity of Procreation issued by the Congregation for the Doctrine of the Faith.

In September 1986, The American Fertility Society issued a report, Ethical Considerations of the New Reproductive Technologies, setting forth the then-held ethical position of the Society on the various new reproductive technologies. In 1987, the Congregation for the Doctrine of the Faith issued the Instruction on the Respect for Human Life and Its Origin and on the Dignity of Procreation. While both documents state that very similar moral criteria were used to derive ethical positions with respect to various reproductive procedures, the conclusions as to the ethical acceptability of the various procedures differ sharply in the two documents. The question can be raised about the procedure used by the Congregation of the Faith to derive its conclusions from the stated premises. Thus, while stating that "the individual integrally and adequately considered" is to be the basis of the moral judgment, the fact is that most conclusions are based on and referenced to past Catholic statements. While the difference in conclusion from similar premises may be troubling to society, it can be especially paralyzing to four groups: (1) those who face problems that might be solved by one or another of the new reproductive technologies; (2) those who are involved in applying them; (3) those who are responsible for institutional policies where such techniques may be applied; and (4) those who are in a position to influence public policy in a legislative or regulatory way. Because of the conflicting conclusions of the two documents, the present Ethics Committee (1986-87) of The American Fertility Society was convened and considered these guidelines in the light of the Instruction.(ABSTRACT TRUNCATED AT 250 WORDS)

Bioethics↗

Live-birth rates and multiple-birth risk of assisted reproductive technology pregnancies conceived using thawed embryos, USA 1999-2000.

BACKGROUND: Increasing use of assisted reproductive technology treatments has been associated with the current rise in multiple births in the USA. Embryo cryopreservation and subsequent thawed embryo transfer may favourably impact the multiple-birth risk by relieving some pressure that patients and providers may feel to transfer several embryos in a single cycle. The study objective was to examine both live-birth rates and multiple-birth risk in thawed cycles. METHODS: The authors used a population-based sample of 21 555 assisted reproductive technology procedures performed in US clinics in 1999 and 2000 that used thawed embryos derived from the patient's oocytes. RESULTS: Both patient age and the number of embryos transferred were independent predictors of live birth. Even among women aged 20-29 years, the transfer of three embryos resulted in an increase in the live-birth rate compared with cycles in which one or two embryos were transferred. This increase in success was accompanied by an increased multiple-birth risk. In all age groups up to 40 years, the transfer of just two embryos resulted in a multiple-birth risk of 16-17%. The multiple-birth risk increased with the number of embryos transferred. CONCLUSIONS: Patient age and the number of embryos transferred significantly affect live-birth and multiple-birth rates among women who use thawed embryos.

Adult↗

Assisted reproductive technology surveillance--United States, 2002.

PROBLEM/CONDITION: In 1996, CDC initiated data collection regarding assisted reproductive technology (ART) procedures performed in the United States, as mandated by the Fertility Clinic Success Rate and Certification Act (FCSRCA) (Public Law 102-493, October 24, 1992). ART includes fertility treatments in which both eggs and sperm are handled in the laboratory (i.e., in vitro fertilization and related procedures). Patients who undergo ART treatments are more likely to deliver multiple-birth infants than women who conceive naturally. Multiple births are associated with increased risk for mothers and infants (e.g., pregnancy complications, premature delivery, low-birthweight infants, and long-term disability among infants). REPORTING PERIOD: 2002. DESCRIPTION OF SYSTEM: : CDC contracts with the Society for Assisted Reproductive Technology (SART) to obtain data from ART medical centers located in the United States. Since 1997, CDC has compiled data related to ART procedures. RESULTS: In 2002, a total of 115,392 ART procedures were reported to CDC. These procedures resulted in 33,141 live-birth deliveries and 45,751 infants. Nationally, 74% of ART procedures used freshly fertilized embryos from the patient's eggs; 14% used thawed embryos from the patient's eggs; 8% used freshly fertilized embryos from donor eggs; and 3% used thawed embryos from donor eggs. Overall, 42% of ART transfer procedures resulted in a pregnancy, and 34% resulted in a live-birth delivery (delivery of one or more live-born infants). The highest live-birth rates were observed among ART procedures using freshly fertilized embryos from donor eggs (50%). The highest numbers of ART procedures were performed among residents of California (15,117), New York (13,276), Massachusetts (8,631), New Jersey (7,744), and Illinois (7,492). These five states also reported the highest number of infants conceived through ART. Of 45,751 infants born through ART, 53% were born in multiple-birth deliveries. The multiple-birth risk was highest for women who underwent ART transfer procedures using freshly fertilized embryos from either donor eggs (42%) or their own eggs (35%). Number of embryos transferred, embryo availability (an indicator of embryo quality), and patient's age were also strong predictors of multiple-birth risk. Approximately 1% of U.S. infants born in 2002 were conceived through ART. Those infants accounted for 17% of multiple births nationally. The percentage of ART infants who were low birth rate ranged from 9% among singletons to 95% among triplets or higher order multiples. The percentage of ART infants born preterm ranged from 15% among singletons to 97% among triplets or higher order multiples. INTERPRETATION: Whether an ART procedure resulted in a pregnancy and live-birth delivery varied according to different patient and treatment factors. ART poses a major risk for multiple births. This risk varied according to the patient's age, the type of ART procedure performed, the number of embryos transferred, and embryo availability (an indicator of embryo quality). PUBLIC HEALTH ACTION: ART-related multiple births represent a sizable proportion of all multiple births nationally and in selected states. Efforts should be made to limit the number of embryos transferred for patients undergoing ART. In addition, adverse infant health outcomes (e.g., low birthweight and preterm delivery) should be considered when assessing the efficacy and safety of ART.

Female↗

Assisted reproductive technology surveillance--United States, 2003.

PROBLEM/CONDITION: In 1996, CDC initiated data collection regarding assisted reproductive technology (ART) procedures performed in the United States, as mandated by the Fertility Clinic Success Rate and Certification Act (FCSRCA) (Public Law 102-493, October 24, 1992). ART includes fertility treatments in which both eggs and sperm are handled in the laboratory (i.e., in vitro fertilization and related procedures). Patients who undergo ART treatments are more likely to deliver multiple-birth infants than women who conceive naturally. Multiple births are associated with increased risk for mothers and infants (e.g., pregnancy complications, premature delivery, low-birthweight infants, and long-term disability among infants). REPORTING PERIOD COVERED: 2003. DESCRIPTION OF SYSTEM: CDC contracted with the Society for Assisted Reproductive Technology (SART) to obtain data from ART medical centers located in the United States. Since 1997, CDC has compiled data related to ART procedures. RESULTS: In 2003, a total of 122,872 ART procedures were reported to CDC. These procedures resulted in 35,785 live-birth deliveries and 48,756 infants. Nationwide, 74% of ART procedures used freshly fertilized embryos from the patient's eggs; 14% used thawed embryos from the patient's eggs; 8% used freshly fertilized embryos from donor eggs; and 4% used thawed embryos from donor eggs. Overall, 42% of ART transfer procedures resulted in a pregnancy, and 35% resulted in a live-birth delivery (delivery of one or more live-born infants). The highest live-birth rates were observed among ART procedures using freshly fertilized embryos from donor eggs (51%). The highest numbers of ART procedures were performed among residents of California (15,911), New York (15,534), Massachusetts (8,813), Illinois (8,676), and New Jersey (8,299). These five states also reported the highest number of infants conceived through ART. Of 48,756 infants born through ART, 51% were born in multiple-birth deliveries. The multiple-birth risk was highest for women who underwent ART transfer procedures using freshly fertilized embryos from either donor eggs (40%) or their own eggs (34%). Number of embryos transferred, embryo availability (an indicator of embryo quality), and patient's age were also strong predictors of multiple-birth risk. Approximately 1% of U.S. infants born in 2003 were conceived through ART. Those infants accounted for 18% of multiple births nationwide. The percentage of ART infants who were low birthweight ranged from 9% among singletons to 94% among triplets or higher order multiples. The percentage of ART infants born preterm ranged from 15% among singletons to 97% among triplets or higher order multiples. INTERPRETATION: Whether an ART procedure resulted in a pregnancy and live-birth delivery varied according to different patient and treatment factors. ART poses a major risk for multiple births. This risk varied according to the patient's age, the type of ART procedure performed, the number of embryos transferred, and embryo availability (an indicator of embryo quality). PUBLIC HEALTH ACTIONS: ART-related multiple births represent a sizable proportion of all multiple births nationwide and in selected states. Efforts should be made to limit the number of embryos transferred for patients undergoing ART. In addition, adverse infant health outcomes (e.g., low birthweight and preterm delivery) should be considered when assessing the efficacy and safety of ART.

Adult↗

Birth of MHC-defined rhesus monkeys produced by assisted reproductive technology.

One of the best animal approaches for testing HIV vaccines is the challenge of vaccinated rhesus macaques with SHIV or SIV. Production of rhesus macaques in which all of the MHC class I and II alleles are known represents an opportunity to characterize the entire immune response to SIV and should be an invaluable resource for understanding pathogenesis and vaccine-induced immune responses. Unfortunately, there are few MHC-defined rhesus macaques available for vaccine research. Selective breeding supports the production of limited numbers of macaques that express particular MHC class I alleles. If both parents express the allele of interest, only three quarters of the offspring will express the same allele. However, assisted reproductive technologies, such as in vitro fertilization (IVF) and embryo transfer, can be used for production of MHC-defined macaques, expressing multiple MHC class I and II molecules for which SIV peptides, tetramers and ELISPOT assays exist. Here, we report the birth of MHC-defined rhesus monkeys produced by assisted reproductive technology. Continued improvements in assisted reproductive technologies in rhesus monkeys will enable us to develop a unique prototypic animal production program for the creation of MHC-defined and genetically-identical monkeys for vaccine research.

Animals↗

Feminism and reproductive technologies.

... Rowland is a social scientist and a radical feminist, and she has undertaken the task of making readers think twice about reproductive technologies. If a reader isn't thinking twice, it will not do to blame it on Rowland and the shortcomings of her book. She has a good deal to say that is extremely important and that needs to be considered by anyone who is interested in the moral issues, in general, and the issues for women and children, in particular, that are raised by the new and emerging reproductive technologies. Her book should be widely read. And it should generate the worries it is written to generate.

Abortion, Eugenic↗

Reproductive technology and the law in Canada.

Even leaving aside the question of the impact of reproductive technology on property law, successions, commercial law and the legal qualification to be given to some of the relationships it entails (e.g. 'deposit' of genetic material, 'lease and hire' of wombs, 'gifts' of embryos), there is no doubt that, like the discovery of the atom, no other scientific advance portends such an enormous potential for human benefits or harm. No other scientific advance will so affect the personal, intimate life of the individual person in its public or private aspects. Beginning then with the positive law (Part I), we will attempt to trace, albeit summarily, possible legal approaches to reproductive technology in Canada and to conclude with an overview of proposed reforms (Part II).

Canada↗

Use of assisted reproductive technologies and anesthesia in a patient with primary pulmonary hypertension.

OBJECTIVE: To report the use of assisted reproductive technologies (ART) in a patient with primary pulmonary hypertension. DESIGN: Case report. SETTING: University medical center. PATIENT(S): A 28-year-old nulliparous woman with primary pulmonary hypertension (PPH) treated with continuous intravenous epoprostenol. INTERVENTION(S): Ovarian stimulation, egg retrieval, general anesthesia, and pregnancy by surrogate carrier. MAIN OUTCOME MEASURE(S): Successful ART cycle(s) in patient with PPH and successful gestational carrier pregnancy. RESULT(S): Successful pregnancy by surrogate gestational carrier. CONCLUSION(S): Assisted reproductive technologies and a surrogate gestational carrier were a successful reproductive option for a patient with primary pulmonary hypertension. Ovarian stimulation, oocyte retrieval, and general anesthesia are not without risk but were well tolerated in this case. Multidisciplinary involvement in the planning and administration of such procedures is necessary for optimal outcomes in these patients.

Adult↗